{"Name":"Weill-Marchesani 4 syndrome, recessive","DiseaseID__c":"GARD:0017579","id":17579,"encodedName":"weill-marchesani-4-syndrome-recessive","IsDeleted":false,"Disease_Name_Full__c":"Weill-Marchesani 4 syndrome, recessive","Xref_IDs__c":"C2750787; C567710; MEDGEN:416383; MONDO:0013176; OMIM:613195; ORPHA:363992","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:363992","Disease_Description__c":"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.","GARD_Name__c":"Weill-Marchesani 4 syndrome, recessive","GARD_Synonym__c":"15q26.3 microdeletion syndrome; ichthyosis-short stature-brachydactyly-microspherophakia syndrome; weill-marchesani syndrome 4; weill-marchesani-like syndrome; wms4","Curated_Disease_Description_Source__c":"ORPHA:363992","Curated_Disease_Description__c":"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:363992","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013176","ORPHANET_ID__c":"ORPHA:363992","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ictiosis-talla baja-braquidactilia-microesferofaquia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de ictiosis-talla baja-braquidactilia-microesferofaquia","Spanish_GARD_Synonym__c":"síndrome de microdeleción 15q26.3","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.","Curated_Disease_Description_Source__c":"ORPHA:363992","GARD_Synonym__c":"15q26.3 microdeletion syndrome; ichthyosis-short stature-brachydactyly-microspherophakia syndrome; weill-marchesani syndrome 4; weill-marchesani-like syndrome; wms4","Name":"Weill-Marchesani 4 syndrome, recessive","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:363992"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:363992"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1114","Source__c":"Gene Review","Xref__c":"NBK1114"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567710","Source__c":"MONDO:0013176","Xref__c":"C567710"},{"URL__c":"https://www.orpha.net/en/disease/detail/363992","Source__c":"C2750787; MONDO:0013176","Xref__c":"ORPHA:363992"},{"URL__c":"https://www.omim.org/entry/613195","Source__c":"C2750787; MONDO:0013176","Xref__c":"OMIM:613195"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=416383","Source__c":"C2750787","Xref__c":"MEDGEN:416383"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2750787","Source__c":"C2750787","Xref__c":"C2750787"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013176","Source__c":"GARD:0017579","Xref__c":"MONDO:0013176"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADAMTS17","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613195","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","Feature__r":{"HPO_Description__c":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001083","HPO_Synonym__c":"Abnormality of lens position; Lens dislocation","HPO_Name__c":"Ectopia lentis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011484","HPO_Synonym__c":"Iridolenticular adhesions; Posterior synechiae","HPO_Name__c":"Posterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","Feature__r":{"HPO_Description__c":"Tremulousness (trembling) of the lens of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012629","HPO_Synonym__c":"Phacodonesis; Trembling eye lens","HPO_Name__c":"Phakodonesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","Feature__r":{"HPO_Description__c":"Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100693","HPO_Name__c":"Iridodonesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613195","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000594","HPO_Name__c":"Shallow anterior chamber","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["15q26.3 microdeletion syndrome"," ichthyosis-short stature-brachydactyly-microspherophakia syndrome"," weill-marchesani syndrome 4"," weill-marchesani-like syndrome"," wms4"]}